Journal article

Publication year: 2010

Pages: 311-315

Journal: Modern Rheumatology

Volume number: 20

Issue number: 3

ISSN: 1439-7595

eISSN: 1439-7609

Open access status: Green

DOI Link: https://doi.org/10.1007/s10165-010-0273-y

Publisher: Oxford University Press

Abstract: 
We report on a 33-year-old female patient with a relatively mild clinical case of TNF-receptor associated periodic syndrome (TRAPS) and her 58-year-old father in whom end-stage renal disease due to TRAPS-related AA-amyloidosis has already developed. TRAPS was caused by a I170N mutation that has previously not been associated with amyloidosis. It remains unclear if an only mildly affected patient such as ours would benefit from treatment considering her father's severe course of disease. The relevant literature on this problem is reviewed.

Harvard Citation style: Lehmann, P., Salzberger, B., Haerle, P., Aksentijevich, I., Kastner, D., Schoelmerich, J., et al. (2010) Variable intrafamilial expressivity of the rare tumor necrosis factor-receptor associated periodic syndrome-associated mutation I170N that affects the TNFR1A cleavage site, Modern Rheumatology, 20(3), pp. 311-315. https://doi.org/10.1007/s10165-010-0273-y

APA Citation style: Lehmann, P., Salzberger, B., Haerle, P., Aksentijevich, I., Kastner, D., Schoelmerich, J., Rosenfeld, S., & Mueller-Ladner, U. (2010). Variable intrafamilial expressivity of the rare tumor necrosis factor-receptor associated periodic syndrome-associated mutation I170N that affects the TNFR1A cleavage site. Modern Rheumatology. 20(3), 311-315. https://doi.org/10.1007/s10165-010-0273-y